{
    "disease_id": "DOID:0111514",
    "recommended_name": {
        "id": "DOID:0111514",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111514",
        "name": "metatropic dysplasia",
        "description": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111514",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111514",
            "name": "metatropic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "metatropic dysplasia",
            "description": "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "Metatropic Dysplasia I",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "Metatropic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "metatropic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "Metatropic dysplasia, nonlethal dominant",
            "description": ""
        },
        {
            "id": "MIM:156530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156530",
            "name": "Metatropic dysplasia",
            "description": "Metatropic dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111514"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111514",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111514",
            "categories": []
        },
        {
            "id": "MONDO:0007986",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "categories": []
        },
        {
            "id": "MIM:156530",
            "database": "MIM",
            "url": "https://www.omim.org/entry/156530",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCH8-1",
            "uniprot_ac": "A0A8M2BCH8",
            "uniprot_id": "A0A8M2BCH8_DANRE",
            "refseq_ac": "XP_005165208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpv4",
                    "type": "recommended"
                },
                {
                    "name": "trpv4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fp52e02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCH8-1",
            "evidence": [
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPK8-1",
            "uniprot_ac": "Q9EPK8",
            "uniprot_id": "TRPV4_MOUSE",
            "refseq_ac": "NP_071300",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "trpv4 channel",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv4",
                    "type": "recommended"
                },
                {
                    "name": "0610033B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Trp12",
                    "type": "synonym"
                },
                {
                    "name": "Trpv4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "VRL-2",
                    "type": "synonym"
                },
                {
                    "name": "VROAC",
                    "type": "synonym"
                },
                {
                    "name": "Vrl2",
                    "type": "synonym"
                },
                {
                    "name": "Vroac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPK8-1",
            "evidence": [
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HBA0-1",
            "uniprot_ac": "Q9HBA0",
            "uniprot_id": "TRPV4_HUMAN",
            "refseq_ac": "NP_001170899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OSM9-like transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "VRL-2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPV4",
                    "type": "recommended"
                },
                {
                    "name": "BCYM3",
                    "type": "synonym"
                },
                {
                    "name": "CMT2C",
                    "type": "synonym"
                },
                {
                    "name": "HMSN2C",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "SMAL",
                    "type": "synonym"
                },
                {
                    "name": "SPSMA",
                    "type": "synonym"
                },
                {
                    "name": "SSQTL1",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "TRPV4",
                    "type": "synonym"
                },
                {
                    "name": "VRL2",
                    "type": "synonym"
                },
                {
                    "name": "VROAC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HBA0-1",
            "evidence": [
                {
                    "id": "156530",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/156530"
                },
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12324-1",
            "uniprot_ac": "Q12324",
            "uniprot_id": "YVC1_YEAST",
            "refseq_ac": "NP_014730",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium channel YVC1",
                    "type": "recommended"
                },
                {
                    "name": "TRP homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yeast vacuolar conductance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yvc1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YVC1",
                    "type": "recommended"
                },
                {
                    "name": "YOR088W",
                    "type": "synonym"
                },
                {
                    "name": "YOR3151W",
                    "type": "synonym"
                },
                {
                    "name": "YVC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12324-1",
            "evidence": [
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERZ8-1",
            "uniprot_ac": "Q9ERZ8",
            "uniprot_id": "TRPV4_RAT",
            "refseq_ac": "NP_076460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subf V memb 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily 5, member 4",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically activated channel (Vroac)",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv4",
                    "type": "recommended"
                },
                {
                    "name": "Otrpc4",
                    "type": "synonym"
                },
                {
                    "name": "Trpv4",
                    "type": "synonym"
                },
                {
                    "name": "Vroac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERZ8-1",
            "evidence": [
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI57-1",
            "uniprot_ac": "M9PI57",
            "uniprot_id": "M9PI57_DROME",
            "refseq_ac": "NP_001261833",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5842-PB",
                    "type": "synonym"
                },
                {
                    "name": "NANCHUNG",
                    "type": "synonym"
                },
                {
                    "name": "Nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "nan-PB",
                    "type": "synonym"
                },
                {
                    "name": "nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential vanilloid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nan",
                    "type": "recommended"
                },
                {
                    "name": "CG5842",
                    "type": "synonym"
                },
                {
                    "name": "CT18317",
                    "type": "synonym"
                },
                {
                    "name": "DmNan",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5842",
                    "type": "synonym"
                },
                {
                    "name": "Iav",
                    "type": "synonym"
                },
                {
                    "name": "NAN",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "OCR",
                    "type": "synonym"
                },
                {
                    "name": "TRPV",
                    "type": "synonym"
                },
                {
                    "name": "nan",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI57-1",
            "evidence": [
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3W0-1",
            "uniprot_ac": "Q9W3W0",
            "uniprot_id": "Q9W3W0_DROME",
            "refseq_ac": "NP_572353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4536-PA",
                    "type": "synonym"
                },
                {
                    "name": "Inactive",
                    "type": "synonym"
                },
                {
                    "name": "iav-PA",
                    "type": "synonym"
                },
                {
                    "name": "inactive",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "iav",
                    "type": "recommended"
                },
                {
                    "name": "CG4536",
                    "type": "synonym"
                },
                {
                    "name": "CT14708",
                    "type": "synonym"
                },
                {
                    "name": "DmIav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4536",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4536",
                    "type": "synonym"
                },
                {
                    "name": "IAV",
                    "type": "synonym"
                },
                {
                    "name": "Iav",
                    "type": "synonym"
                },
                {
                    "name": "TRPV",
                    "type": "synonym"
                },
                {
                    "name": "hypoB",
                    "type": "synonym"
                },
                {
                    "name": "iav",
                    "type": "synonym"
                },
                {
                    "name": "osm-9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3W0-1",
            "evidence": [
                {
                    "id": "0111514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111514"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111514"
}